PALB2 MUTATION AND BREAST CANCER RISK

NEW YORK (Reuters Health) - Women with a PALB2 gene mutation are at increased risk of breast cancer, compared with women who don't carry the mutation, researchers have found.

They also found that breast cancer patients with the PALB2 mutation had a significantly decreased 10-year survival rate, compared with women with breast cancer who did not have the mutation, according to an article online May 7 in the Lancet Oncology.

"I think the key question is the advisability of preventive mastectomy for unaffected carriers," corresponding author Dr. Steven Narod, director of the Familial Breast Cancer Research Unit at the Women's College Research Institute in Toronto, Ontario, Canada, told Reuters Health by email. "Healthy women who carry a PALB2 mutation should consider preventive mastectomy."

Dr. Narod and colleagues from the Polish Hereditary Breast Cancer Consortium analyzed data on patients with invasive breast cancer recruited from 18 hospitals throughout Poland between 1996 and 2012. Included in the study were 12,529 breast cancer patients tested for the PALB2 mutation and a control group of 4,702 women without breast cancer.

Of the breast cancer patients, 116 (0.93%) carried the mutation, and 10 (0.21%) members of the control group also carried it (OR=4.39, p<0 .0001="" p="">

The 10-year survival for women with breast cancer and a PALB2 mutation came to 48.0%, compared to 74.7% in breast cancer patients without the mutation (adjusted hazard ratio for death=2.27, p<0 .0001="" p="">

"We believe evidence is sufficient to offer screening for PALB2 mutations to women with familial forms of breast cancer, in addition to screening for BRCA1 and BRCA2," the researchers wrote. "Personalized treatment for women with breast cancer and a PALB2 mutation could be important, and a clinical database of women with breast cancer and a PALB2 mutation should be established."

"PALB2 is a rare cause of hereditary breast cancer," Dr. Marc Tischkowitz, a lecturer in the Department of Medical Genetics at the University of Cambridge in England, who was not involved in the study, told Reuters Health by email. "It is much rarer than BRCA1 and BRCA2 and was only discovered as a breast cancer gene in 2007, so we know a lot less about it."

The Polish National Science Centre funded the study. The authors reported no disclosures.